Results 181 to 190 of about 446,252 (268)

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai   +5 more
wiley   +1 more source

Trace Elements Genetics: A Potential Role in Treatment‐Resistant Major Psychoses and Related Traits?

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Trace elements are pivotal to key biological processes, with possible effects on psychopathology. We investigated the hypothesis of shared genetic factors between trace elements levels, treatment resistance and related traits. We used genome‐wide summary statistics for trace elements blood concentration, treatment‐resistant depression (TRD ...
Chiara Fabbri   +6 more
wiley   +1 more source

Various Hepatic Fibrosis Markers Should Be Evaluated for Causing Complications After Hepatectomy

open access: yes
Annals of Gastroenterological Surgery, EarlyView.
Toru Ikegami   +3 more
wiley   +1 more source

Maternal Factors Modifying the Link Between Genetic Risk for Autism and Developmental Milestones

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Although common genetic liability—quantified through polygenic risk scores (PRS)—accounts for substantial variance in autism spectrum disorder (ASD) liability, how prenatal environmental exposures interact with genetic predisposition to shape developmental outcomes remains poorly understood. Using the data from Autism Genetic Resource Exchange
Liliana D'Alesio   +4 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen   +5 more
wiley   +1 more source

Gold‐Einzelatomkatalysatoren ermöglichen die selektive Shuttle‐Hydrochlorierung von Alkinen

open access: yesAngewandte Chemie, EarlyView.
Gold‐Einzelatomkatalysatoren auf Aktivkohle ermöglichen dank des Zusammenwirkens zwischen Au(I)‐Zentren und dem Träger die heterogene Shuttle‐Hydrochlorierung von terminalen Alkinen zu Vinylchloriden mit hoher Chemo‐ und Stereoselektivität. Das katalytische System vereint breite Substratverträglichkeit, vereinfachte Abtrennung und Wiederverwertbarkeit ...
Marc‐Eduard Usteri   +8 more
wiley   +1 more source

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